|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy.
|
23816408 |
2013 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.
|
22765922 |
2012 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
|
21267010 |
2011 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein.
|
21674835 |
2011 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
|
21810866 |
2011 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
|
19150014 |
2009 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family.
|
17703256 |
2007 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].
|
17125710 |
2006 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy.
|
16650083 |
2006 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gene mutations in apical hypertrophic cardiomyopathy.
|
16267253 |
2005 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
|
15358028 |
2004 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines.
|
14607462 |
2003 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
|
12818575 |
2003 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.
|
12566107 |
2003 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
|
12975413 |
2003 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
|
12951062 |
2003 |
|
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.
|
11733062 |
2001 |